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MRPL33 (mitochondrial ribosomal protein L33)

Identity

Alias_namesC2orf1
Alias_symbol (synonym)RPL33L
Other aliasL33mt
MRP-L33
HGNC (Hugo) MRPL33
LocusID (NCBI) 9553
Atlas_Id 70452
Location 2p23.2  [Link to chromosome band 2p23]
Location_base_pair Starts at 27771717 and ends at 27779741 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MRPL33 (2p23.2) / RBKS (2p23.2)MRPL33 (2p23.2) / SLC4A1AP (2p23.3)MRPL33 (2p23.2) / ZNF512 (2p23.3)
MRPL33 (2p23.2) / ZNF649 (19q13.41)PTTG1IP (21q22.3) / MRPL33 (2p23.2)MRPL33 ZNF512
MRPL33 RBKS

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(2;2)(p23;p23) MRPL33/ZNF512
t(2;2)(p23;p23) MRPL33/RBKS

External links

Nomenclature
HGNC (Hugo)MRPL33   14487
Cards
Entrez_Gene (NCBI)MRPL33  9553  mitochondrial ribosomal protein L33
AliasesC2orf1; L33mt; MRP-L33; RPL33L
GeneCards (Weizmann)MRPL33
Ensembl hg19 (Hinxton)ENSG00000243147 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000243147 [Gene_View]  chr2:27771717-27779741 [Contig_View]  MRPL33 [Vega]
ICGC DataPortalENSG00000243147
TCGA cBioPortalMRPL33
AceView (NCBI)MRPL33
Genatlas (Paris)MRPL33
WikiGenes9553
SOURCE (Princeton)MRPL33
Genetics Home Reference (NIH)MRPL33
Genomic and cartography
GoldenPath hg38 (UCSC)MRPL33  -     chr2:27771717-27779741 +  2p23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MRPL33  -     2p23.2   [Description]    (hg19-Feb_2009)
EnsemblMRPL33 - 2p23.2 [CytoView hg19]  MRPL33 - 2p23.2 [CytoView hg38]
Mapping of homologs : NCBIMRPL33 [Mapview hg19]  MRPL33 [Mapview hg38]
OMIM610059   
Gene and transcription
Genbank (Entrez)AA836397 AF047440 BC009475 BC020834 BC087846
RefSeq transcript (Entrez)NM_004891 NM_145330
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MRPL33
Cluster EST : UnigeneHs.515879 [ NCBI ]
CGAP (NCI)Hs.515879
Alternative Splicing GalleryENSG00000243147
Gene ExpressionMRPL33 [ NCBI-GEO ]   MRPL33 [ EBI - ARRAY_EXPRESS ]   MRPL33 [ SEEK ]   MRPL33 [ MEM ]
Gene Expression Viewer (FireBrowse)MRPL33 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9553
GTEX Portal (Tissue expression)MRPL33
Human Protein AtlasENSG00000243147-MRPL33 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75394   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75394  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75394
Splice isoforms : SwissVarO75394
PhosPhoSitePlusO75394
Domains : Interpro (EBI)Ribosomal_L33    Ribosomal_zn-bd   
Domain families : Pfam (Sanger)Ribosomal_L33 (PF00471)   
Domain families : Pfam (NCBI)pfam00471   
Conserved Domain (NCBI)MRPL33
DMDM Disease mutations9553
Blocks (Seattle)MRPL33
PDB (SRS)3IY9    3J7Y    3J9M   
PDB (PDBSum)3IY9    3J7Y    3J9M   
PDB (IMB)3IY9    3J7Y    3J9M   
PDB (RSDB)3IY9    3J7Y    3J9M   
Structural Biology KnowledgeBase3IY9    3J7Y    3J9M   
SCOP (Structural Classification of Proteins)3IY9    3J7Y    3J9M   
CATH (Classification of proteins structures)3IY9    3J7Y    3J9M   
SuperfamilyO75394
Human Protein Atlas [tissue]ENSG00000243147-MRPL33 [tissue]
Peptide AtlasO75394
HPRD14753
IPIIPI00006864   IPI00873631   IPI00373816   IPI00892664   
Protein Interaction databases
DIP (DOE-UCLA)O75394
IntAct (EBI)O75394
FunCoupENSG00000243147
BioGRIDMRPL33
STRING (EMBL)MRPL33
ZODIACMRPL33
Ontologies - Pathways
QuickGOO75394
Ontology : AmiGOstructural constituent of ribosome  mitochondrial inner membrane  mitochondrial large ribosomal subunit  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBIstructural constituent of ribosome  mitochondrial inner membrane  mitochondrial large ribosomal subunit  mitochondrial translational elongation  mitochondrial translational termination  
NDEx NetworkMRPL33
Atlas of Cancer Signalling NetworkMRPL33
Wikipedia pathwaysMRPL33
Orthology - Evolution
OrthoDB9553
GeneTree (enSembl)ENSG00000243147
Phylogenetic Trees/Animal Genes : TreeFamMRPL33
HOVERGENO75394
HOGENOMO75394
Homologs : HomoloGeneMRPL33
Homology/Alignments : Family Browser (UCSC)MRPL33
Gene fusions - Rearrangements
Fusion: TCGA_MDACCMRPL33 ZNF512
Fusion: TCGA_MDACCMRPL33 RBKS
Fusion PortalMRPL33 ZNF512
Fusion PortalMRPL33 RBKS
Fusion : QuiverMRPL33
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRPL33 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MRPL33
dbVarMRPL33
ClinVarMRPL33
1000_GenomesMRPL33 
Exome Variant ServerMRPL33
ExAC (Exome Aggregation Consortium)ENSG00000243147
GNOMAD BrowserENSG00000243147
Genetic variants : HAPMAP9553
Genomic Variants (DGV)MRPL33 [DGVbeta]
DECIPHERMRPL33 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMRPL33 
Mutations
ICGC Data PortalMRPL33 
TCGA Data PortalMRPL33 
Broad Tumor PortalMRPL33
OASIS PortalMRPL33 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRPL33  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMRPL33
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MRPL33
DgiDB (Drug Gene Interaction Database)MRPL33
DoCM (Curated mutations)MRPL33 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MRPL33 (select a term)
intoGenMRPL33
Cancer3DMRPL33(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610059   
Orphanet
DisGeNETMRPL33
MedgenMRPL33
Genetic Testing Registry MRPL33
NextProtO75394 [Medical]
TSGene9553
GENETestsMRPL33
Target ValidationMRPL33
Huge Navigator MRPL33 [HugePedia]
snp3D : Map Gene to Disease9553
BioCentury BCIQMRPL33
ClinGenMRPL33
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9553
Chemical/Pharm GKB GenePA30964
Clinical trialMRPL33
Miscellaneous
canSAR (ICR)MRPL33 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMRPL33
EVEXMRPL33
GoPubMedMRPL33
iHOPMRPL33
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:43:39 CET 2018
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